Results for the protein: NP

Results for the Protein: NP_001124295

195927037

1786

DNMT1

NCBI

DNA (cytosine-5)-methyltransferase 1 isoform a [Homo sapiens]

Known Diseases associated with this Protein:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
NEUROPATHY, HEREDITARY SENSORY, TYPE IE

6

3

6

3

0

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: DMAP_binding - pfam06464 DNMT1-RFD - pfam12047 BAH_Dnmt1_I - cd04760 zf-CXXC - pfam02008 BAH_DCM_I - cd04712 BAH - cd04370 BAH - pfam01426 BAH - smart00439 BAH_plantDCM_II - cd04708 BAH_Dnmt1_II - cd04711 Dcm - COG0270 Cyt_C5_DNA_methylase - cd00315 DNA_methylase - pfam00145	RefSeq Protein: NP_001124295 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BAH_DCM_I	cd04712	1.8e-06	768	897
BAH	cd04370	5.8e-31	770	894
BAH_Dnmt1_I	cd04760	3.8e-97	770	916
BAH_plantDCM_II	cd04708	5.9e-09	943	1167
BAH	cd04370	7.8e-49	946	1113
BAH_Dnmt1_II	cd04711	3.6e-110	981	1117
Dcm	COG0270	2.4e-39	1152	1616
Cyt_C5_DNA_methylase	cd00315	2.5e-17	1155	1610
zf-CXXC	pfam02008	1.3e-22	661	707
BAH	pfam01426	1.1e-36	771	896
BAH	pfam01426	6.2e-36	982	1116
DNA_methylase	pfam00145	2.9e-21	1155	1610
DMAP_binding	pfam06464	4.9e-31	16	106
DNMT1-RFD	pfam12047	1.2e-56	415	550
BAH	smart00439	8.8e-36	772	896
BAH	smart00439	2.2e-45	948	1116

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16999593	Polymorphism	p.HIS97ARG	N/A
dbSNP	rs2228613	Polymorphism	p.ILE544MET	N/A
dbSNP	rs2228612	Polymorphism	p.ILE327PHE	N/A
OMIM	126375.0004	Disease	p.ALA570VAL	CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
OMIM	126375.0002	Disease	p.ASP490GLU	NEUROPATHY, HEREDITARY SENSORY, TYPE IE
OMIM	126375.0005	Disease	p.GLY605ALA	CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
OMIM	126375.0002	Disease	p.PRO491TYR	NEUROPATHY, HEREDITARY SENSORY, TYPE IE
OMIM	126375.0001	Disease	p.TYR495CYS	NEUROPATHY, HEREDITARY SENSORY, TYPE IE
OMIM	126375.0003	Disease	p.VAL606PHE	CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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